Variant report

Variant	rs12329892
Chromosome Location	chr21:16335344-16335345
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16331957..16335486-chr21:16435819..16438054,3	MCF-7	breast:
2	chr21:16334780..16336550-chr21:16340369..16342276,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2228507	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2823013	0.82[JPT][hapmap]
rs2823015	0.82[JPT][hapmap]
rs2823016	0.82[JPT][hapmap]
rs3787575	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs56214311	1.00[EUR][1000 genomes]
rs56862001	0.91[ASN][1000 genomes]
rs59988518	0.96[ASN][1000 genomes]
rs73170281	1.00[EUR][1000 genomes]
rs73170284	1.00[EUR][1000 genomes]
rs73170289	1.00[EUR][1000 genomes]
rs73170291	1.00[EUR][1000 genomes]
rs73170302	1.00[EUR][1000 genomes]
rs73172303	1.00[EUR][1000 genomes]
rs73172306	1.00[EUR][1000 genomes]
rs73172308	1.00[EUR][1000 genomes]
rs881996	0.91[ASN][1000 genomes]
rs926184	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9789839	1.00[EUR][1000 genomes]
rs9789846	1.00[EUR][1000 genomes]
rs9789848	1.00[EUR][1000 genomes]
rs9808640	1.00[EUR][1000 genomes]
rs9808710	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9985141	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060151	chr21:16295713-16435497	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv544378	chr21:16295713-16435497	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16315600-16338000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr21:16322400-16339200	Weak transcription	Pancreas	Pancrea
3	chr21:16328000-16335800	Weak transcription	Dnd41	blood
4	chr21:16328200-16335600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr21:16328200-16335600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr21:16328200-16338800	Weak transcription	HUVEC	blood vessel
7	chr21:16328600-16335600	Weak transcription	K562	blood
8	chr21:16328600-16337600	Weak transcription	Psoas Muscle	Psoas
9	chr21:16328800-16335800	Weak transcription	Fetal Muscle Leg	muscle
10	chr21:16328800-16337200	Weak transcription	Left Ventricle	heart
11	chr21:16328800-16339400	Weak transcription	Ovary	ovary
12	chr21:16328800-16341600	Weak transcription	Hela-S3	cervix
13	chr21:16329000-16338000	Weak transcription	Placenta	Placenta
14	chr21:16329600-16335600	Weak transcription	Fetal Kidney	kidney
15	chr21:16329600-16338400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr21:16329600-16338800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr21:16330000-16335400	Weak transcription	HSMM	muscle
18	chr21:16330000-16337600	Weak transcription	Fetal Stomach	stomach
19	chr21:16330200-16335400	Weak transcription	HMEC	breast
20	chr21:16330400-16335400	Weak transcription	NH-A	brain
21	chr21:16330400-16338600	Weak transcription	NHLF	lung
22	chr21:16330600-16337200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr21:16330800-16335400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr21:16331000-16335600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr21:16331000-16335800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr21:16331000-16337400	Weak transcription	Osteobl	bone
27	chr21:16331000-16337800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr21:16331000-16338600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:16331000-16338600	Weak transcription	Brain Hippocampus Middle	brain
30	chr21:16331000-16338800	Weak transcription	Colon Smooth Muscle	Colon
31	chr21:16331400-16335600	Weak transcription	HepG2	liver
32	chr21:16331400-16339200	Weak transcription	Brain Substantia Nigra	brain
33	chr21:16331400-16339600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr21:16331600-16335800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr21:16331600-16338000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr21:16331600-16341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr21:16331800-16340200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr21:16332000-16337600	Weak transcription	Liver	Liver
39	chr21:16332200-16335400	Weak transcription	A549	lung
40	chr21:16332200-16338000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr21:16332800-16337200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr21:16333000-16337000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr21:16333200-16335600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr21:16333400-16338600	Weak transcription	Small Intestine	intestine
45	chr21:16333600-16335600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr21:16333800-16335400	Weak transcription	Primary T cells from cord blood	blood
47	chr21:16333800-16335400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr21:16333800-16335400	Weak transcription	Fetal Thymus	thymus
49	chr21:16333800-16335400	Weak transcription	HSMMtube	muscle
50	chr21:16333800-16337000	Weak transcription	Rectal Mucosa Donor 29	rectum

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